Abstract: Objective　To analyze the clinical and gene mutation characteristics of patients with congenital adrenal hyperplasia （CAH） confirmed by neonated screening to understand the effect of early diagnosis and treatment. Methods　The clinical data of 30 patients with CAH born from August 2016 to April 2022 who were diagnosed by neonatal screening were retrospectively analyzed. Results　（1） Among the 30 cases （19 males and 11 females） there were 24 （80%） patients with salt-wasting type， 5 （16.67%） simple-virilizing type， and 1 non-classical type; 2 patients had related family history.（2） The median age at screening was 4 （3， 6.25） days， and the median age at diagnosis was 19 （13.75， 27） days. The median age at the last follow-up was 2.39 （1.10， 3.43） years， and the average dose of hydrocortisone（HC） was 10.15 （8.20， 11.37） mg/（㎡·d）. Growth and development were all within the normal range for children of the same gender and age. （3） A total of 16 mutations were found in 28 patients undergoing genetic testing. It was concluded that c.293-13C/A>G was the hot spot mutation of CAH in this study. Conclusion　Early screening， diagnosis and treatment can help to detect CAH early， thus improving growth， development and prognosis. Identifying the type of mutation facilitates genetic counseling.

Key words: congenital adrenal hyperplasia, 21-hydroxylase deficiency, neonatal screening, gene mutation

摘要： 目的　分析新生儿筛查确诊先天性肾上腺皮质增生症（congenital adrenal hyperplasia，CAH）患儿的临床与基因突变特点，了解早期诊治效果。方法　对2016年8月至2022年4月于首都医科大学附属北京妇产医院/北京妇幼保健院出生并经新生儿筛查确诊的30例CAH患儿的临床资料进行回顾分析。结果　（1）30例患儿中失盐型24例、单纯男性化型5例、非经典型1例；有家族史2例；（2）筛查中位年龄为4（3，6.25）d，诊断中位年龄为19（13.75，27）d；末次随访中位年龄为2.39（1.10，3.43）岁，氢化考的松中位剂量为10.15（8.20，11.37）mg/（㎡·d），生长发育均位于同性别同年龄段儿童正常范围；（3）28例患儿基因检测共发现16种突变，c.293-13C/A>G为本组CAH的热点突变。结论　早期筛查和诊治有助于早发现CAH，从而改善生长发育和预后；明确突变类型有助于遗传咨询。

关键词: 先天性肾上腺皮质增生症, 21-羟化酶缺乏, 新生儿筛查, 基因突变